Lou Gehrig's disease

Amyotrophic lateral sclerosis (ALS) was first discovered in 1869 by a man named Jean-Martin Charcot. Charcot and this new discovery did not get any recognition until much later. The year was 1929 and the famous baseball player, Lou Gehrig, was the pitcher for the Yankees. His Yankees career soared as he competed with many famous baseball players that are considered some of the greatest of all time. Lou was on top of his game, pitching at his best until 1938, when he started to play well below his average. When Lou went to his doctors they initially diagnosed him with gallbladder disease, as well as many other possible diagnoses. But overall, Lou continued to get weaker every day, confusing the physicians. Lou then determined to find the correct diagnosis. In 1939, Lou was officially diagnosed with ALS by physicians at the Mayo Clinic. Because of this diagnosis, Lou was forced to retire within that same year. The disease unfortunately took his life in 1941.

If it wasn’t for Lou Gehrig being diagnosed with ALS, the disease would not have gotten the same attention. This is why it is also known as Lou Gehrig’s disease (ALS). ALS degenerates the motor neurons, which block the brain signals that send information telling the muscles to move. The “if you don’t use it you lose it” adage then takes its toll on the body. Since the muscles are no longer receiving the signals that they need, the muscles then start to atrophy and become weak. This makes the individual no longer able to use those muscles again. The once easy tasks, that everyone takes for granted, are then turned into hard tasks for individuals that are diagnosed with this disease.  By the rapid atrophy of the muscles the individual is then forced to slowly watch their demise.

Since Lou was diagnosed with ALS, there have been many other well-known athletes that have been diagnosed with ALS and died shortly thereafter. A football player that played for the Minnesota Vikings was forced to retire because his performance was not up to par. He was later diagnosed in 2001 with ALS which then also led to his demise. Since then, ALS has again come into familiarity as many other popular athletes have been diagnosed and died a few years later. With this increase in diagnosed individuals on the rise, it is forcing scientists to find some kind of cure.

There are many questions that are being asked because of this rise in athletes being diagnosed with ALS. Many believe that there is a correlation between high trauma in certain sports and ALS. Individuals that play sports aren’t the only victims that are being looked at. Some scientists are looking into veterans that have served in high combat areas and have survived blast injuries. It is believed that any type of trauma to the brain can be dangerous; whether it be as simple as heading the ball in a soccer game, or a complete tackle from another individual in football. The possible damage that the brain goes through is under investigation. Many believe there is some kind of correlation, however, the results have not completely been confirmed yet. While others believe that it is some gene mutation that happens sporadically in some individuals.

With many people looking into ALS, a lot of interesting things have been discovered that were not previously known before. It was thought that ALS was just some random occurrence that happened in an individual. Although this is partially true, scientists have found that there is another disease that can affect individuals, FALS: Familial Amyotrophic Lateral Sclerosis (FALS). FALS is exactly what it says in the name: a disease passed down from generation to generation. Although this is not as popular as ALS it still happens in 10% of individuals. FALS shows up earlier in an individual’s life compared to ALS which usually makes an appearance after a certain age resulting in a later diagnosis. In order for an individual to get FALS there is a mutation that happens in a region that is called A4V, a mutation that is inside that region called the TDP-43 gene. And inside this gene, scientists have found that there are three mutations called A315T, G348C, and A382T. It is said that the splicing of exons and introns put this mutation in the wrong area to get expressed when it should not be expressed. Further research is being tested to see what are the possibilities to prevent the mutation from happening. Individuals diagnosed with ALS experience a mutation that has been also narrowed down to the SOD1 gene. This reduces the enzymatic activity within the cell by a mutation blocker called CuZnSODS.

                With all these possibilities of trying to find out where the mutation occurs, there is only one type of drug that is being used to help diagnosed individuals. A drug called Riluzole, is used to slow down the progression of ALS and prolong survival. Although it is not a cure, it is used to decrease the individual’s body levels of glutamate. People that are diagnosed with ALS have high glutamate levels and it is thought that glutamate affects the brain nerves to send messages to the muscles (Miller et. al. 2007). There are no other medications that have been developed to help individuals that have been diagnosed with these diseases.

There is, however, another developing “drug” that is being tested. By using high RNA sequencing to find the abnormalities in RNA in the spinal cord, scientists have found that there is a significant amount of inflammatory processes with tumor necrosis found to be in a major pathway region. They then looked into the transcription factors in the region and identified the transcription factors that were involved in the inflammation, which are NfKB, REL, NfKB1. Scientists believe that by controlling these transcription factors, individuals diagnosed with ALS, as well as those experiencing the inflammation in the spinal cord area, will experience some relief (Brohawn et. Al. 2016).

Knowledge of the disease is still sparse. Some individuals still have never heard of this disease. Others have heard about the disease because they are sports fans, and may have heard that others playing sports were diagnosed and had to retire because of its affects. A few years ago many social media users heard about ALS because of a popular bucket challenge. Still some only completed the challenge for fun because “everyone else was doing it” and simply have no clue what it is or what it does to an individual that is diagnosed with ALS.

I had also never heard about the disease until I was introduced to it first hand when my grandpa came home from the hospital following a routine checkup from his heart surgery. I was still young and did not fully understand what exactly ALS was. All I remember and could understand was that my grandpa was getting weaker every day. I also remember the many walks that we did to support others as well as my grandpa to raise money and awareness in Nevada. My grandfather went from a healthy independent individual to a person that had to rely on everyone in order to function properly. Within just two years, my grandfather went from being diagnosed with ALS to being a vegetable. That part of his life I will never forget, a once vibrant full of life individual taken at 71. Knowing about this disease, and knowing what it does to an individual, has impacted my life forever. In my grandfather’s memory, I hope to bring awareness to others of what this disease is and what it does.

-          http://search.proquest.com.proxy.li.suu.edu:2048/docview/434213454?accountid=28757

-          Miller, R. G., Mitchell, J. D., Lyon, M., & Moore, D. H. (2007). Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). The Cochrane Library.

-          Stong, C. (2010). Head Trauma May Lead to ALS-Like Disorder. (Cover story). Neurology Reviews, 18(9), 1-21.

-          ALAN, S. (2010, August 18). Linking Head Trauma and A.L.S. in Military. New York Times. p. 12.

-          Lacorte, E., Ferrigno, L., Leoncini, E., Corbo, M., Boccia, S., & Vanacore, N. (2016). Physical activity, and physical activity related to sports, leisure and occupational activity as risk factors for ALS: A systematic review. Neuroscience & Biobehavioral Reviews,6661-79. doi:10.1016/j.neubiorev.2016.04.007

-          Beghi, E. (2013). Are professional soccer players at higher risk for ALS?. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 14(7/8), 501-506. doi:10.3109/21678421.2013.809764

-          Aebischer, P., & Kato, A. C. (2007). PLAYING DEFENSE AGAINST LOU GEHRIG'S DISEASE. Scientific American, 297(5), 86-93

-          http://web.b.ebscohost.com.proxy.li.suu.edu:2048/ehost/pdfviewer/pdfviewer?sid=b654e277-3cdc-4c18-928c-775d5b21b602%40sessionmgr105&vid=6&hid=101

-          Brohawn, D. G., O’Brien, L. C., & Jr.Bennett, J. P. (2016). RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord. Plos ONE, 11(8), 1-25. doi:10.1371/journal.pone.0160520

-          Boillée, S., Velde, C. V., & Cleveland, D. W. (2006). ALS: a disease of motor neurons and their nonneuronal neighbors. Neuron, 52(1), 39-59.

-          Kabashi, E., Lin, L., Tradewell, M. L., Dion, P. A., Bercier, V., Bourgouin, P., ... & Rouleau, G. A. (2010). Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Human molecular genetics, 19(4), 671-683.